Genetic polymorphism in intron 6 of the LMP7 gene in Japanese and its association with sarcoidosis.
Genetic polymorphism in intron 6 of the LMP7 gene was investigated using polymerase chain reaction-restriction fragment length polymorphism in 90 unrelated healthy Japanese controls and 66 Japanese patients with sarcoidosis. Four alleles, including two new ones recently identified in Koreans, LMP7*C and LMP7*D, were found in the Japanese population. The frequency of LMP7*C in the sarcoidosis patients was higher than in the healthy controls. However, this difference might be explained by a secondary association with HLA-DRB1*08 in the HLA-DRB1 gene, which is thought to be the gene primarily responsible for susceptibility to sarcoidosis.
Ishihara
M
M
Department of Ophthalmology, Yokohama City University School of Medicine, Kanagawa, Japan.
Ohno
S
S
Ishida
T
T
Naruse
T
T
Inoko
H
H
D000483:Alleles; D044466:Asian People; D003546:Cysteine Endopeptidases; D006684:HLA-DR Antigens / Q000235:genetics*; D059811:HLA-DRB1 Chains; D006801:Humans; D007438:Introns; D007564:Japan / Q000208:ethnology; D015810:Linkage Disequilibrium; D009097:Multienzyme Complexes; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D046988:Proteasome Endopeptidase Complex; D011506:Proteins / Q000235:genetics*; D012507:Sarcoidosis / Q000235:genetics* / Q000276:immunology
D006684:HLA-DR Antigens; D059811:HLA-DRB1 Chains; D009097:Multienzyme Complexes; D011506:Proteins; D003546:Cysteine Endopeptidases; C077436:LMP7 protein; D046988:Proteasome Endopeptidase Complex